Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Deanna Marchionini"'
Autor:
Kai Shing, Ellen Sapp, Adel Boudi, Sophia Liu, Connor Seeley, Deanna Marchionini, Marian DiFiglia, Kimberly B. Kegel-Gleason
Publikováno v:
Neurobiology of Disease, Vol 187, Iss , Pp 106313- (2023)
Expansion of a triplet repeat tract in exon 1 of the HTT gene causes Huntington’s disease (HD). The mutant HTT protein (mHTT) has numerous aberrant interactions with diverse, pleiomorphic effects. Lowering mHTT is a promising approach to treat HD,
Externí odkaz:
https://doaj.org/article/c8c24b399d8147d6a817da585ba95743
Autor:
Mahalakshmi Shankaran, Eleonora Di Paolo, Valerio Leoni, Claudio Caccia, Costanza Ferrari Bardile, Hussein Mohammed, Stefano Di Donato, Seung Kwak, Deanna Marchionini, Scott Turner, Elena Cattaneo, Marta Valenza
Publikováno v:
Neurobiology of Disease, Vol 98, Iss , Pp 66-76 (2017)
Cholesterol precursors and cholesterol levels are reduced in brain regions of Huntington's disease (HD) mice. Here we quantified the rate of in vivo de novo cholesterol biosynthesis in the HD brain. Samples from different brain regions and blood of t
Externí odkaz:
https://doaj.org/article/c0d37c93e4704693a5dced6666ed9de7
Publikováno v:
Cell Transplantation, Vol 11 (2002)
Attachment of donor cells to microcarriers has been reported to make them more tolerable for transplantation into the brain. Human retinal pigment epithelial (hRPE) cells have been previously reported to contain enzymes for the production of dopa. Th
Externí odkaz:
https://doaj.org/article/bc6d34e401654175b936d7aeb3f97982
Autor:
Ellen Sapp, Kai Shing, Adel Boudi, Sophia Liu, Connor Seeley, Deanna Marchionini, Marian DiFiglia, Kimberly B. Kegel-Gleason
Publikováno v:
bioRxiv
Lowering mutant huntingtin (mHTT) transcription is a promising approach to treat Huntington’s disease (HD). Using a mHtt-inducible mouse model we analyzed mHttlowering initiated at different ages and sustained for different time-periods. mHTT prote
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf76168d9d0e095d1f1f1a736803f095
https://europepmc.org/articles/PMC9900921/
https://europepmc.org/articles/PMC9900921/
Autor:
Daniele Bertoglio, Ladislav Mrzljak, Steven Staelens, Herrmann F, Van der Linden A, Gaertner A, Huscher B, Mills Mr, Alan Miranda, Jonathan Bard, Schaertl S, Celia Dominguez, Finn Peters, Deanna Marchionini, Jeroen Verhaeghe, Zajicek F, De Lombaerde S, Wang Y, Longbin Liu, Khetarpal, Christopher J. Brown, ME Prime, Johnson Pd, Mette Skinbjerg, Ignacio Munoz-Sanjuan, Vasilkovska T, Hessmann M
Huntington’s disease (HD) is a dominantly inherited neurodegenerative disorder caused by a CAG trinucleotide expansion in thehuntingtin(HTT) gene that encodes the pathologic mutant HTT (mHTT) protein with an expanded polyglutamine (PolyQ) tract. Wh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bb93a53c609c5c496783d2ef3aa9ec2b
https://doi.org/10.1101/2021.07.09.451725
https://doi.org/10.1101/2021.07.09.451725
Autor:
Jose Beltran, Teija Parkkari, Sanna Gustafsson, Neelam Shahani, Afshin Ghavami, Larry Park, Taneli Heikkinen, Mei Kwan, Deanna Marchionini, Srinivasa Subramaniam, Juha Kuosmanen, Uri Nimrod Ramírez-Jarquín, Timo Bragge, Ignacio Munoz-Sanjuan
Publikováno v:
PLoS ONE
PLoS ONE, Vol 16, Iss 10, p e0258486 (2021)
PLoS ONE, Vol 16, Iss 10, p e0258486 (2021)
Huntington’s disease (HD) results from an expansion mutation in the polyglutamine tract in huntingtin. Although huntingtin is ubiquitously expressed in the body, the striatum suffers the most severe pathology. Rhes is a Ras-related small GTP-bindin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6878ef4acd983462325493f313aadebc
https://pubmed.ncbi.nlm.nih.gov/34648564
https://pubmed.ncbi.nlm.nih.gov/34648564
Autor:
Holly B. Kordasiewicz, Vanessa C. Wheeler, Marissa A Andrew, Michael Flower, Deanna Marchionini, Seung Kwak, José M. Carrillo, Cassandra A. McHugh, Heather Ging, Robert M. Bragg, Julie-Anne Rodier, Jeffrey P. Cantle, Sydney R. Coffey, Scott Zeitlin, David Howland, Hilary Wilkinson, C. Frank Bennett, Ricardo Mouro Pinto, Marina Kovalenko, Sarah J. Tabrizi, Georg Auburger, Joseph Hamilton, Jeffrey B. Carroll
Expanded trinucleotide repeats cause many human diseases, including Huntington’s disease (HD). Recent studies indicate that somatic instability of these repeats contributes to pathogenesis in several expansion disorders. We find that lowering hunti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3d6223761933271ca2f891e8b36eb09c
https://doi.org/10.1101/2020.07.23.218347
https://doi.org/10.1101/2020.07.23.218347
Autor:
Zhihua Chen, Erin Furr Stimming, Gang Li, Shiyu Xu, Deanna Marchionini, Zhen Xu, Dongsheng Chen, Lili Ye, Xin Ye, Sheng Zhang
Perturbation of Huntingtin (HTT)’s physiological function is one postulated pathogenic factor in Huntington’s disease (HD). However, little is known how HTT is regulatedin vivo. In a proteomic study, we isolated a novel ∼40kDa protein as a stro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f3305c637d5681804b2e62d5f9e15416
https://doi.org/10.1101/2020.05.27.119552
https://doi.org/10.1101/2020.05.27.119552
Autor:
Junghyun Lim, Petr Vodicka, Hyunsun Park, Dana T. Williams, Zhenyu Yue, Marian DiFiglia, Kimberly B. Kegel, Kathy Lyons, Dawn Yates, Stephen Wilkinson, Maria Beconi, Neil Aronin, Celia Dominguez, Kathryn Chase, Deanna Marchionini, Tania Mead, Helen L. Birch
Publikováno v:
Journal of Huntington's Disease. 3:159-174
BACKGROUND Increasing mutant huntingtin (mHTT) clearance through the autophagy pathway may be a way to treat Huntington's disease (HD). Tools to manipulate and measure autophagy flux in brain in vivo are not well established. OBJECTIVE To examine the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1fd8ec675205454aba95ca1433e297a
https://doi.org/10.3233/jhd-130081
https://doi.org/10.3233/jhd-130081
Autor:
Cristina Cariulo, Kirsten Kuhlbrodt, Alberto Bresciani, Ignacio Munoz-Sanjuan, Anja Nordheim, Roberto Boggio, Celia Dominguez, Deanna Marchionini, Roberta Altobelli, Maria Carolina Spiezia, John Wityak, Valentina Fodale, Andreas Weiss
Publikováno v:
PLoS ONE, Vol 13, Iss 3, p e0194423 (2018)
PLoS ONE
PLoS ONE
Autophagy is a cellular mechanism that can generate energy for cells or clear misfolded or aggregated proteins, and upregulating this process has been proposed as a therapeutic approach for neurodegenerative diseases. Here we describe a novel set of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1844515ea082242dcf3f70f1ed1b3729
https://doi.org/10.1371/journal.pone.0194423
https://doi.org/10.1371/journal.pone.0194423